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skos:definition |
MSH: A protein-tyrosine kinase receptor that is specific for NERVE GROWTH FACTOR; NEUROTROPHIN 3; neurotrophin 4, neurotrophin 5. It plays a crucial role in pain sensation and thermoregulation in humans. Gene mutations that cause loss of receptor function are associated with CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS, while gene rearrangements that activate the protein-tyrosine kinase function are associated with tumorigenesis.,NCI: Human NTRK1 Gene (TKRI/INSR Family) encodes neuronal TRKA-I and non-neural TRKA-II isoforms (similar biological properties) of type I membrane protein Neurotrophic Tyrosine Kinase Receptor Type 1, containing 2 LRR repeats and 2 Ig-like C2-type domains. NTRK1 exists in dynamic equilibrium as low affinity monomers and high affinity dimers with TRKA, TRKB, or TRKC to bind NGF, NTF3, NTF4/5, and BDNF neurotrophins that regulate development and function of the nociceptive and thermoregulatory nervous systems. Ligand stimulation of TRK activates autophosphorylation, SHC, PI-3 kina
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